SMIM43 (Small Integral Membrane Protein 43): Gene, Function, and Clinical Relevance
A comprehensive overview of SMIM43, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SMIM43 |
|---|---|
| Full Name | Small Integral Membrane Protein 43 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 100130776 ncbi.nlm.nih.gov/gene/100130776 |
| Ensembl ID | ENSG00000250504 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | Not available |
| HGNC ID | 53673 |
| Aliases | C4orf51 |
Description
SMIM43 (Small Integral Membrane Protein 43) is a protein-coding gene located on chromosome 4q32.1. It encodes a small transmembrane protein of unknown function. The gene is conserved across species and is expressed in various tissues, with notable levels in the kidney and liver. Its biological role is not yet fully characterized, but it is predicted to be involved in membrane-related processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated disease links in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 8.9 | Medium |
| Liver | 7.2 | Medium |
| Testis | 5.1 | Low |
| Lung | 4.3 | Low |
| Brain | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.5 | Moderate expression |
| HepG2 | 5.8 | Moderate expression |
| A549 | 3.2 | Low expression |
| MCF7 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143253678 | Missense | 0.01% (global) | Unknown effect; no clinical significance reported. |
| rs764622582 | Frameshift | Rare | Predicted loss-of-function; no disease association. |
Mutation functional classification
Loss of Function (LOF)
No evidence of pathogenic loss-of-function mutations in SMIM43; variants are rare and not linked to disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • membrane |
Protein Summary
SMIM43 is a small integral membrane protein with a single transmembrane domain. Its exact function is unknown, but it is predicted to localize to cellular membranes. It shows moderate expression in kidney and liver tissues, suggesting a possible role in renal or hepatic physiology. No significant disease associations have been identified to date.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMIM43 Knockout HEK293 Cell Line | EDJ-KQ9295 | Human | 132332 | Details Get a Quote |
| SMIM43 Knockout A-549 Cell Line | EDJ-KQ35909 | Human | 132332 | Details Get a Quote |
| SMIM43 Knockout HCT 116 Cell Line | EDJ-KQ35910 | Human | 132332 | Details Get a Quote |
| SMIM43 Knockout HeLa Cell Line | EDJ-KQ35911 | Human | 132332 | Details Get a Quote |
